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1.
Article in Chinese | WPRIM | ID: wpr-908033

ABSTRACT

Objective:To investigate the clinical and genetic features of children with Arts syndrome.Methods:The clinical features of a child with Arts syndrome diagnosed in Department of Neurology, Children′s Hospital of Nanjing Medical University were retrospectively analyzed.Relevant literatures about Arts syndromes were reviewed as well.Results:It was a 17-month-old boy with initial symptoms of hearing loss after birth, delayed motor development and early-onset hypotonia.At the age of 15 months old, the boy had respiratory failure due to pneumonia.Electromyographic suggested multiple peripheral neurogenic lesions.Visual evoked potentials were normal.Gene sequencing of PRPS1 of the boy revealed a novel hemizygous missense c. 421C>T (p.P141S) hemizygote missense mutation, and therefore, the boy was diagnosed as Arts syndrome.Motor development improved after rehabilitation treatment.Through literature review, 14 children with Arts syndrome, including 4 genotypes of missense mutations were reviewed in 4 English-published literatures.These cases had similar manifestations with the case reported in this study.Conclusions:Arts syndrome is a rare X-linked recessive inheritant disorder caused by PRPS1 mutations with complex clinical phenotypes.The novel missense mutation c. 421C>T found in this study expands the PRPS1 gene mutation profile.

2.
Chinese Journal of School Health ; (12): 1465-1468, 2021.
Article in Chinese | WPRIM | ID: wpr-904573

ABSTRACT

Objective@#To compare the emotional and behavioral characteristics of preschool firstborn children across the transition to siblinghood with the only children in a district of Chongqing.@*Methods@#Data were derived from a cohort study on firstborn children transition to siblinghood. Totally 882 firstborn children (3.58±1.25) years old and 329 only children (3.98±1.02) years old were recruited from two hospitals and 19 kindergartens in a district of Chongqing, respectively. Their mothers filled out the parental version of Child Behavior Checklist (CBCL) and self designed questionnaire.@*Results@#The overall scores of emotional and behavioral problems of firstborn children and only children were (25.17±18.82) and (31.75±18.64). The results of rank sum test showed that the scores of the firstborn children in all dimensions, internalizing and externalizing behavior problems and overall emotional and behavioral problems were lower than those of the only children ( P <0.05). Chi square test results showed that the detection rates of internalizing, externalizing and overall emotional behavior problems in only children(12.77%, 13.07%, 14.59%) were higher than those in firstborn children(8.28%, 8.28%,8.16%) ( χ 2=5.62, 6.36, 11.09, P <0.05). Multiple linear regression showed that after adjusting for age, gender, family economic pressure, temperament type of children, family atmosphere and family type, the scores of internalizing problems, externalizing problems and overall problems of the only children were still higher than those of the firstborn children ( B =1.54, 2.32, 6.81, P <0.05).@*Conclusion@#The firstborn children across the transition to siblinghood show less emotional and behavioral problems than the only children, and the scores and detection rates of all types of emotional and behavioral problems of the firstborn children are lower than those of the only children.

3.
Article in Chinese | WPRIM | ID: wpr-882917

ABSTRACT

Objective:To investigate the clinical and genetic characteristics of peroxisome D-bifunctional protein deficiency (PDBPD) associated with HSD17B4 mutation. Methods:The clinical and genetic characteristics of 2 cases of PDBPD in August 2020, at Children′s Hospital Affiliated to Nanjing Medical University caused by HSD17B4 gene mutation were retrospectively analyzed. Results:Male proband and his sister suffered from neonatal epilepsy, psychomotor development disorders, ataxia, myasthenia, hearing impairment, and foot deformity.The very long chain fatty acids in serum were normal, and brain magnetic resonance imaging (MRI) showed bilateral cerebellar hemisphere atrophy.Electromyography suggested changes in the myoelectricity of multiple peripheral neurogenic lesions.Auditory evoked potential displayed severe bilateral sensorineural hearing loss.Exome sequencing identified compound heterozygous mutations (c.1171G > C, c.686-2A>T) in HSD17B4.The clinical diagnosis was PDBPD, aged 8 and 14 years, respectively. Conclusions:Two cases of HSD17B4 mutation-induced PDBPD were first reported in Chinese mainland, which was in line with its typical clinical manifestations.The newly discovered c. 1171G> C and c. 686-2A>T mutations enriched the HSD17B4 mutation spectrum.

4.
Article in Chinese | WPRIM | ID: wpr-862544

ABSTRACT

Objective To investigate the noninvasive indicators of indications for antiviral therapy in HBeAg-negative chronic hepatitis B virus (HBV) infection patients with alanine aminotransferase (ALT) ≤40 U/L under the guidance of liver pathology. MethodsA retrospective analysis was performed for the clinical data of 377 HBeAg-negative chronic HBV infection patients with ALT ≤40 U/L who were hospitalized in Affiliated Hospital of Yan’an University, from October 2013 to August 2018 and underwent liver biopsy, among whom the patients with inflammatory activity <A2 and fibrosis stage <F2 were enrolled as non-antiviral therapy group(n=266), and the patients with inflammatory activity ≥A2 or fibrosis stage ≥F2 were enrolled as antiviral therapy group(n=111). The chi-square test was used for comparison of categorical data between two groups; the t-test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups; univariate and multivariate binary logistic regression analyses were used to screen out the influencing factors for the initiation of antiviral therapy; the receiver operating characteristic (ROC) curve was plotted to evaluate the diagnostic efficiency of each indicator in determining the need for antiviral therapy in HBeAg-negative chronic HBV infection patients with ALT ≤40 U/L. ResultsOf all 377 patients, 266 (70.6%) did not need antiviral therapy for the time being, and 111 (29.4%) had marked liver damage and thus needed active antiviral therapy. The multivariate analysis showed that liver stiffness measurement (LSM) (odds ratio [HR]=2.003, 95% confidence interval [CI]: 1.647-2.437, P<005), HBsAg (HR=1.563, 95% CI: 1.110-2.200, P<0.05), HBV DNA (HR=1.519, 95% CI: 1173-1.966, P<0.05), and albumin (HR=0.939, 95% CI: 0.884-0.998, P<0.05) were independent influencing factors for the initiation of antiviral therapy. The ROC curve analysis showed that the area under the ROC curve (AUC) was 0.749 (95% CI: 0.699-0799) for LSM, 0642 (95% CI: 0.586-0.699) for HBV DNA, and 0.565 (95% CI: 0.507-0.623) for HBsAg, and the combination of LSM, HBV DNA, and HBsAg had a larger AUC of 0.779 (95% CI: 0.732-0.827). ConclusionThe levels of LSM, HBV DNA, and HBsAg have a reference value in determining the initiation of antiviral therapy in HBeAg-negative chronic HBV infection patients with ALT≤40 U/L.

5.
Article in Chinese | WPRIM | ID: wpr-868106

ABSTRACT

Objective:To investigate the multi-sites high frequency ultrasound features of rectus diastasis (RD) in early postpartum women and their relationships with different delivery modes.Methods:Total of 571 primiparas who gave birth in the Obstetrics and Gynecology Hospital Affiliated to Zhejiang University Medical College from March to May 2020 and underwent 6-week postpartum examination were chosen, they were divided into vaginal delivery group (336 cases) and the cesarean section group (235 cases). The inter-rectus distance(IRD) of five loci (umbilical on 4.5 cm, umbilical on 3 cm, umbilical edge, edge of umbilical, umbilical down 3 cm) at resting state and two loci (umbilical edge, edge of umbilical) at curling state as well as the rectus thickness on the right side of umbilical level were observed by high frequency ultrasound. The impacts of the two delivery modes on IRD at each site and the changes of IRD under the two conditions were analyzed. Spearman correlation analysis was used to evaluate the correlation between the thickness of rectus abdominis and IRD at each site.Results:The incidence of early postpartum RD was 79.7% (455/571), most of which occurring at 3 cm above the umbilicus and the umbilicus levels. At resting state, the IRDs at the 5 loci of vaginal delivery group were (1.62±0.79)cm, (2.03±0.84)cm, (2.65±0.94)cm, (2.09±0.93)cm, and 0.54(0.00, 1.13)cm respectively, while the IRDs at 5 loci of the cesarean section group were (1.75±0.85)cm, (2.26±0.99)cm, (2.99±1.14)cm, (2.57±1.21)cm, and 1.00(0.41, 1.59)cm, with statistical differences at all the levels between groups ( P<0.05). Under the curling state, the IRDs at the 2 loci of vaginal delivery group were (2.10±0.84)cm and (1.66±0.86)cm respectively, while the IRDs at the 2 loci of cesarean section group were (2.28±0.87)cm and (1.91±0.87)cm, with statistical differences between groups( P<0.05). The incidences of increased IRD when compared between resting and curling states at the upper and lower umbilicus in the vaginal delivery group were 16.1% and 26.5%, with 17.4% and 20.4% in the cesarean section group. At the resting state, there was a significant difference in the thickness of rectus abdominis between the vaginal delivery and cesarean section groups [(0.74±0.12)cm vs (0.67±0.12)cm, P<0.05]. At the curling state, the difference between two groups was statistically significant [(1.11±0.23)cm vs (0.99±0.22)cm, P<0.05]. The thickness of rectus abdominis was negatively correlated with IRD(all the 5 loci at resting state, rs=-0.116, -0.140, -0.185, -0.143, -0.144, all P<0.01; and the upper umbilical loci at curling state, rs=-0.091, P<0.05). There was no significant correlation between the thickness of rectus abdominis and IRD at the lower umbilical edge at the curling state ( P>0.05). Conclusions:High frequency ultrasound can evaluate the morphological characteristics of the abdominal rectus muscle in early postpartum stage. Compared with vaginal delivery, rectus abdominis thickness, the IRD is larger in cesarean section primiparas, but less affected by the curling state.

6.
Journal of Clinical Hepatology ; (12): 1634-1638, 2020.
Article in Chinese | WPRIM | ID: wpr-822908

ABSTRACT

At present, hepatitis B virus (HBV) infection is recognized as an important risk factor for hepatocellular carcinoma (HCC) in the world; however, during the development and progression of hepatitis B, liver cirrhosis, and liver cancer, other factors may promote the development of HCC independently or synergistically with HBV, such as sex, age, family history, alanine aminotransferase/aspartate aminotransferase, smoking and drinking history, metabolic syndrome, and HCV or HIV infection. This article reviews the research advances in the risk factors associated with HCC.

7.
Journal of Clinical Hepatology ; (12): 1134-1137, 2020.
Article in Chinese | WPRIM | ID: wpr-822001

ABSTRACT

Patients with chronic hepatitis B virus (HBV) infection with immune control generally have no or little liver damage, with a low incidence rate of adverse events, and spontaneous HBsAg seroclearance may occur in some patients. Most scholars do not recommend antiviral therapy for such patients in China and foreign countries. However, with the gradual aging of chronic HBV infection, patients with immune control are also faced with disease progression and the development of liver cirrhosis or liver cancer. This article introduces the clinical significance of appropriate timing of antiviral therapy for the prognosis of patients with chronic HBV infection with immune control.

8.
Journal of Clinical Hepatology ; (12): 2087-2091, 2020.
Article in Chinese | WPRIM | ID: wpr-829177

ABSTRACT

Hepatocellular carcinoma (HCC) is one of the most common malignant tumors in the world. At present, the treatment methods for HCC mainly include surgical treatment, local regional treatment, radiotherapy, systematic treatment, and traditional Chinese medicine treatment. This article introduces the indications for surgical treatment, surgical procedures, and the advantages of postoperative adjuvant therapy, analyzes the indications for liver transplantation and its future application in clinical practice, and describes the basic principles, optimal indications, and technical advantages of mature and new ablation techniques at present. It is pointed out that for patients with early-stage HCC, the advantages and shortcomings of each treatment regimen should be fully understood to select a precise treatment regimen.

9.
Journal of Clinical Hepatology ; (12): 1824-1827, 2019.
Article in Chinese | WPRIM | ID: wpr-779052

ABSTRACT

Patients in the immune tolerance stage of chronic hepatitis B virus (HBV) infection are in a state of high viral replication and low inflammation in the liver, and they often have no disease progression. Therefore, antiviral therapy is not recommended in related guidelines. Recent studies have found that the patients in the immune tolerance stage have immune response and liver injury, which is a risk factor for liver cancer, and therefore, antiviral therapy should be actively initiated to prevent disease progression. This article summarizes the research advances in the diagnosis and treatment of patients in the immune tolerance stage of chronic HBV infection and points out that there are still controversies over the application of antiviral therapy in such patients. Appropriate timing of antiviral therapy has a great significance in improving patients’ prognosis and reducing their economic burden.

10.
Journal of Preventive Medicine ; (12): 236-241, 2019.
Article in Chinese | WPRIM | ID: wpr-815724

ABSTRACT

Objective @#To investigate the spatial distribution and the influencing factors of hypertensive patients aged 45 years and above,and to provide evidence for the prevention and control of hypertension among middle-aged and elderly population.@*Methods @#Multi-stage stratified random sampling method was used to collect 150 counties(cities or districts)from 30 provinces(municipalities or autonomous regions)from CHARLS database in 2015 according to the per capita GDP in different areas. Then the probability proportionate to size sampling method was used to select three villages(neighborhood committees),80 families were randomly selected from each village(neighborhood committees),and residents aged 45 years and above were interviewed. Spatial analysis was based on the vector map of China's provincial boundaries,Geoda and ArcGIS 10.2 software were used to analyze the prevalence and influencing factors of hypertension at provincial levels.@*Results @#The health data of 14 880 people aged 45 years and above in 28 provinces(municipalities or autonomous regions)were obtained,including 4 203 patients with hypertension(28.25%)and 5 408 people with pre-hypertension(36.34%). The results of local spatial analysis showed that the clustering regions of hypertension patients were in northeast and eastern parts of China. The results of spatial regression analysis showed that males,age of 80 years and above and overweight were the main risk factors for hypertension(all P<0.05),which had greater influence on the middle part of China,north and northeast of China,and the east and north of China,respectively.@*Conclusion @#Males,age of 80 years and above and overweight were the main risk factors for hypertension in middle-aged and elderly population in China. The main prevention and control areas of hypertension were eastern and northeast China.

11.
Article in Chinese | WPRIM | ID: wpr-483272

ABSTRACT

Objective To develop a new methodology of prenatal sonography scoring to assess and dignose clubfoot.Methods Thirty-one fetuses suspected clubfoot(50 foots) and 62 normal fetuses(124 foots) were scanned with both 2D and 3D sonography,and were divided into normal feet group and clubfeet group.Our scoring system was made according to the Pirani-scoring for children,while considering the morphology of mid-foot and hind-foot of infants.The doctors would give final diagnosis for all fetuses after delivery or induced labor,and analyse the correlations among the abnormal signs,sonographic score and the clinical outcomes.Results The curve lat border,the medial crease,the empty heel and the post crease can be observed in the 3D reconstruction images.These four abnormal signs had close correlations with the clinical results.Conclusions The new prenatal clubfeet scoring system by 3D sonography is a promising methodology with clinical values.

12.
Article in Chinese | WPRIM | ID: wpr-353744

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the preliminary efficacy of video-assisted anal fistula treatment (VAAFT) for complex anal fistula.</p><p><b>METHODS</b>Clinical data of 11 consecutive patients with complex anal fistula undergoing VAAFT in our department from May to July 2015 were reviewed. VAAFT was performed to manage the fistula under endoscope without cutting or resection.</p><p><b>RESULTS</b>VAAFT was successfully performed in all the 11 patients. The internal ostium was closed using mattress suture in 10 cases, and Endo-GIA stapler in 1 case. The mean operative time was (42.0±12.4) min, mean hospital stay was (4.1±1.5) d. Complication included bleeding and perianal infection in 1 case respectively. After 1 to 3.2 months follow-up, success rate was 72.7%(8/11), and no fecal incontinence was observed.</p><p><b>CONCLUSION</b>Video-assisted anal fistula treatment is an effective, safe and minimally invasive surgical procedure for complex anal fistula with preservation of anal sphincter function.</p>


Subject(s)
Fecal Incontinence , Humans , Length of Stay , Minimally Invasive Surgical Procedures , Operative Time , Rectal Fistula , Sutures
13.
China Pharmacy ; (12): 4501-4503, 2015.
Article in Chinese | WPRIM | ID: wpr-501186

ABSTRACT

OBJECTIVE:To establish a rapid,sensitive,accurate and stable method for the determination of voriconazole in human plasma in order to monitor clinical use of voriconazole. METHODS:HPLC-UV detection method was applied using carba-mazepine as internal standard. Plasma samples were treated with acetonitrile protein precipitation. The determination was performed on Phecda C18 column with 20 mmol/L monopotassium phosphate buffer solution (pH 6.0)-acetonitrile (50∶50,V/V) as mobile phase at flow rate of 1 ml/min. The column temperature was 40℃ and detection wavelength was 255 nm. The injection volume was 50 μl. RESULTS:The retention time of voriconazole and internal standard were 8.34 and 6.24 min. The linear range of voricon-azole in plasma were 0.10-20.00 μg/ml(r=0.999 5). The lowest limit of quantitation was 0.05 μg/ml. Intra-day and inter-day RSD were below 1.57% and 1.45%,respectively. The extraction recovery of low,medium and high concentrations were between 81.40%to 128.29%. CONCLUSIONS:The method is simple and accurate for therapeutic drug monitoring(TDM)of voriconazole.

14.
Article in Chinese | WPRIM | ID: wpr-430575

ABSTRACT

Objective To investigate the enlarged perivascular space (EPVS) and its clinical significance in patients with cerebral small vessel disease (CSVD).Methods One hundred seventy-four patients with CSVD and 86 patients without CSVD admitted to Jinling Hospital,Clinical School of Nanjing University School of Medicine from October 2011 to February 2012 were recruited.All patients underwent cranial MRI examination (including diffusion-weighted imaging and fluid attenuated inversion recovery sequences).The numbers of EPVS and anatomic distribution in all the subjects of both groups were analyzed.The receiver operator characteristic (ROC) curve was used to investigate its diagnostic critical value of anatomic distribution.Results Multivariate logistic regression analysis showed that EPVS in basal ganglia region (odds ratio [OR] 1.491,95% confidence interval [CI] 1.165-1.909; P =0.002) and EPVS in centrum semiovale (OR 1.279,95% CI 1.022-1.601;P=0.032) were independently associated with CSVD.EPVS in the basal ganglia region and the centrum semiovale in patients with CSVD was significantly more than that in patients with non-CSVD (all P <0.001).Its corresponding diagnosis cut-off points of CSVD were 4 and 6 respectively.The area under the ROC curve and the diagnostic sensitivity and specificity were 0.859,72.4%,93.0% and 0.808,65.5%,95.3%,respectively.Conclusions EPVS contributes to the diagnosis of CSVD.When using EPVS to diagnose CSVD,the anatomical sites need to be distinguished and establish appropriate diagnostic critical value.

15.
Article in Chinese | WPRIM | ID: wpr-391967

ABSTRACT

Objective To evaluate the ultrasonic feature and clinical significance of persistent left superior vena cava(PLSVC)in fetal life.Methods Fetal echocardiography was performed in 3368 fetuses.Thirty-one fetuses of PLSVC were confirmed.Results The dilated coronary sinus was observed in 30 of 31 fetuses.Congenital heart defects were presented in 14 of these cases,and extracardiac anomalies were presented in 6 fetuses.Both congenital heart defects and extracardiac anomalies were observed in 4 fetuses.Conclusions PLSVC is always associated with congenital heart defects.The prognosis Of affected fetuses largely depends on whether or not the PLSVC is associated with a congenital heart defect.Prenatal diagnosis of PLSVC can help US plan perinatal counseling and ameliorate the postnatal course.

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